Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

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Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare genetic neuro-ophthalmological syndrome characterized by post-natal progressive microcephaly and early-onset seizures associated with delayed global development bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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